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020 _a9783662575772
_9978-3-662-57577-2
050 4 _aRB155-155.8
050 4 _aQH431
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_2bisacsh
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082 0 4 _a611.01816
_223
082 0 4 _a599.935
_223
245 1 0 _aJIMD Reports, Volume 39
_h[electronic resource] /
_cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
250 _a1st ed. 2018.
264 1 _aBerlin, Heidelberg :
_bSpringer Berlin Heidelberg :
_bImprint: Springer,
_c2018.
300 _aVI, 116 p. 20 illus., 8 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aJIMD Reports,
_x2192-8304 ;
_v39
500 _aAcceso multiusuario
505 0 _aSuccessful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency -- Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases -- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients -- Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency -- Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms -- Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis -- Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat -- Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals -- Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe? -- Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers -- Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome] -- Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up -- Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment -- High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB -- Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.
520 _aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
541 _fUABC ;
_cTemporal ;
_d01/01/2021-12/31/2023.
650 0 _aHuman genetics.
650 0 _aMetabolic diseases.
650 0 _aPediatrics.
650 0 _aMolecular biology.
650 1 4 _aHuman Genetics.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B12008
650 2 4 _aMetabolic Diseases.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H33118
650 2 4 _aPediatrics.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H49006
650 2 4 _aMolecular Medicine.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B1700X
700 1 _aMorava, Eva.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aBaumgartner, Matthias.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPatterson, Marc.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aRahman, Shamima.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aZschocke, Johannes.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPeters, Verena.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
710 2 _aSpringerLink (Online service)
773 0 _tSpringer Nature eBook
776 0 8 _iPrinted edition:
_z9783662575765
776 0 8 _iPrinted edition:
_z9783662575789
830 0 _aJIMD Reports,
_x2192-8304 ;
_v39
856 4 0 _zLibro electrónico
_uhttp://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-57577-2
912 _aZDB-2-SBL
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